SLC35A3

This gene encodes a UDP-N-acetylglucosamine transporter found in the golgi apparatus membrane. In cattle, a missense mutation in this gene causes complex vertebral malformation. Alternative splicing results in multiple transcript variants.

Full Name

solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3

Function

Uridine diphosphate-N-acetylglucosamine (UDP-GlcNAc) transporter in the Golgi apparatus. May supply UDP-GlcNAc as substrate for Golgi-resident glycosyltransferases that generate branching of diantennary oligosaccharides.

Biological Process

Biological Process carbohydrate transportIEA:UniProtKB-KW
Biological Process UDP-N-acetylglucosamine metabolic processManual Assertion Based On ExperimentTAS:ProtInc
Biological Process UDP-N-acetylglucosamine transmembrane transportManual Assertion Based On ExperimentIMP:UniProtKB

Cellular Location

Golgi apparatus membrane

Involvement in disease

Arthrogryposis, impaired intellectual development, and seizures (AMRS):
A disease characterized by arthrogryposis, intellectual disability, autism spectrum disorder, and epilepsy. Additional features include limb malformations, distal joint involvement, microcephaly, retromicrognathia, and general muscle hypotonia.